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News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically … we developed significantly narrows down the number of genomic changes that could be responsible for an individual's … a menu of techniques to detect potentially harmful gene variants. Researchers found, on average, 6.6 faulty genes in …
The Genomics Landscape
In the January 2025 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Erin Ramos as the new director of the Division of Genome Sciences (DGSci).
… start for NHGRI. We just updated our Talking Glossary of Genomic and Genetic Terms with several new entries, including … the venues at which I’ve spoken about genomics and genomic medicine. For example, last month I spoke to a large … with a particular disease. This involves analyzing genomic data from thousands of people. Unfortunately, most …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… a single actual human or a representation of human genomic variation. A reference sequence provides researchers … as new information becomes available (e.g., data about genomic variation). The HGP’s human genome sequence was the … researchers and to increase the representation of human genomic variation will remain key components of NHGRI’s Human …
The Genomics Landscape
In the August 2018 edition of The Genomics Landscape, NHGRI Director Eric Green announces the recent launch of the NHGRI Genomic Innovator Award.
… of the larger consortium. Despite these hurdles, many genomic investigators start their careers as members of such … NHGRI recently launched a new program - the NHGRI Genomic Innovator Award  - that aims to assist 'team science' … work that falls within NHGRI priority areas. The NHGRI Genomic Innovator Award will take a 'people-based' approach. …
History of Genomics Program
The NHGRI History of Genomics Archive is a digital archive that holds a wealth of materials from the early stages of the Human Genome Project and provides a unique and detailed look into how the field has developed in the decades following.
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… evaluation of the institute’s Centers of Excellence in Genomic Science (CEGS) Program. The CEGS Program was launched … processes. The story focuses on a patient with a genomic variant in WARS2 , a crucial gene that produces … to tackle health disparities More widespread access to genomic medicine vital for studying a rare, underdiagnosed …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
…  With rapid advances in genomic technologies seen over the last two decades, … are now regularly generating massive amounts of genomic data. To meet the growing needs of the field, NHGRI established the Office of Genomic Data Science (OGDS) a little over two years ago. …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin … in the body and play an important role in healing wounds. Genomic variation in the STAT4 gene causes disorganized … Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory …
The Genomics Landscape
In the December 8, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., looks back on the success of the Genome: Unlocking Life's Code exhibition as it came to a close in November.
… Over the past year, various aspects of genomic data sharing (GDS) have been highlighted via this … areas of genomics (such as DNA sequencing technologies, genomic variation, functional genomics, comparative genomics, … genomics, conservation genomics, genome editing, and genomic medicine, among others) and the hurdles that must be …
The Genomics Landscape
In the March 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights a strategic planning effort to establish a 2020 vision for genomics.
… 2011 Nature  publication entitled Charting a Course for Genomic Medicine from Base Pairs to Bedside . With the … systems. Prototypic examples of these areas include: genomic technology development; genomic variation and its functional consequences; … that Regulate Blood Pressure Notable Accomplishments in Genomic Medicine New Videos 82nd Meeting: National Advisory …